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Is it AD, XLinked,AR
Name the syndrome
Tri This
Glycogen storage disease
Lysosomal Storage Disease
100
Is it Autosomal recessive, X-linked recessive, X-linked dominant, or Autosomal dominant. Sickle cell disease https://www.paypal.com/cgi-bin/webscr?cmd=_donations&business=BDDH66ZPL37B2&lc=US&item_name=PierreLoredo%2ecom&currency_code=USD&bn=PP%2dDonationsBF%3abtn_donateCC_LG%2egif%3aNonHosted
What is AR
100
Autosomal Dominant Parathyroid absence Thymic hypoplasia (T cell defects) Congenital heart defects (TOF, truncus arteriosus, VSD) Cleft palate Neonatal Hypocalcemia
What is DiGeorge Syndrome
100
Is it Trisomy 21, trisomy 18, trisomy 13, or all three (get it tri and three). atlantoaxial problems leading to possible C1-C2 dislocation Increase risk of leukemia Risk AV canal defect Risk duodenal atresia
What is Trisomy 21
100
Which gycogen storage disease is it (Type 1: Von Gierke, type 2: Pompe, type 3 Cori, or type 5: McArdle) Defect: Lysosomal Hypotonia at birth, enlarged tongue, cardiomegaly.
What is Pompe disease
100
Which Lysosomal Storage Disease (Type 1: Gaucher, Niemann Pick Disease, Tay Sachs, Fabry Disease, or Metochromatic leukodystrophy) 5 ½ months old, present with chief complaint of runny nose. You notice patient with nystagmus. Exagerated startle response and rhinnorhea. After you dilated patient's eyes, you see “cherry red spots.”
What is Tay Sachs disease Also seems to have upper respiratory infection
200
Is it Autosomal recessive, X-linked recessive, X-linked dominant, or Autosomal dominant. Galactosemia
What is AR
200
Autosomal dominant Jaundice Liver biopsy shows few bile ducts congenital heart problems (Tetralogy of Fallot) Unusual butterfly shape of the bones of the spinal column that can be seen in an x-ray Peripheral pulmonic Stenosis
What is Alagille Syndrome
200
Is it Trisomy 21, trisomy 18, trisomy 13, or all three (get it tri and three). Rocker bottom feet Overlapping index finger over third digit) Short Sternum
What is Trisomy 18
200
Which gycogen storage disease is it (Type 1: Von Gierke, type 2: Pompe, type 3 Cori, or type 5: McArdle) doll facies Hepatomegaly Hypoglyceia Lactic Acidosis & High triglycerides high content of uric acid in urine
What is Von Gierke disease
200
Which Lysosomal Storage Disease (Type 1: Gaucher, Niemann Pick Disease, Tay Sachs, Fabry Disease, or Metochromatic leukodystrophy) infant of 3 months, one of three siblings, the eldest of whom likewise died of this disease. Diagnosis was confirmed by splenic puncture.Exam findings revealed hepatosplenomegaly. Imaging showed osteolytic lesions. Blood work revealed anemia and thrombocytopenia. Chemical analysis of spleen and liver showed the glucosidocerebroside characteristic of this diseas
What is Gaucher Disease
300
Hemophilia A and B Is it Autosomal recessive, X-linked recessive, X-linked dominant, or Autosomal dominant.
What is X-linked recessive
300
macroglossia macrosomia midline abdominal wall defects (omphalocele, umbilical hernia, diastasis recti), ear creases or ear pits, and neonatal hypoglycemia
What is Beckwith-Wiedemann syndrome
300
Is it Trisomy 21, trisomy 18, trisomy 13, or all three (get it tri and three). Epicanthal folds Hypotonia at birth Delayed closure of fontanelle
What is Trisomy 21
300
Which gycogen storage disease is it (Type 1: Von Gierke, type 2: Pompe, type 3 Cori, or type 5: McArdle) Enlarge liver in 6 year old, enlarge liver present since 4 months. Sister too had enlarged liver and died several years later. Patient's growth is retarded. No history of seizures. Enzyme defect in liver is debraching enzyme
What is Cori Disease
300
Which Lysosomal Storage Disease (Type 1: Gaucher, Niemann Pick Disease, Tay Sachs, Fabry Disease, or Metochromatic leukodystrophy) Cherry red spots Hyperreflexia Hypotonia
What is Niemann Pick Disease
400
Rett syndrome Is it Autosomal recessive, X-linked recessive, X-linked dominant, or Autosomal dominant.
What is X-linked Dominant
400
congenital heart defect (Pulmonic Stenosis), short stature, webbed neck learning problems, indentation of the chest, impaired blood clotting, and a characteristic configuration of facial features (triangular face, hypertelorism) Lymphedema
What is Noonan Syndrome
400
Is it Trisomy 21, trisomy 18, trisomy 13, or all three (get it tri and three). Holoprosencephaly Cleft lip and palate Hypoplastic ribs
What is Trisomy 13
400
Which gycogen storage disease is it (Type 1: Von Gierke, type 2: Pompe, type 3 Cori, or type 5: McArdle) Enzyme defect: Glucose 6 phosphatase
What is Von gierke Disease
400
Which Lysosomal Storage Disease (Type 1: Gaucher, Niemann Pick Disease, Tay Sachs, Fabry Disease, or Metochromatic leukodystrophy) 16 year old was admitted for evaluation of proteinuria, non-specific cardiac symptoms, and a possible vasculopathy. He had reddish macular-papular skin lesions since the age of 13 years. Since 12 years of age, he experienced acroparesthesias,joint pains, and did not perspire in hot weather.Patient also has delayed puberty and newly diagnosed renal failure. There was no known family history of skin lesions. On Bone marrow lipid laden macrophages are present
What is Fabry disease
500
Is it Autosomal recessive, X-linked recessive, X-linked dominant, or Autosomal dominant. Duchenne muscular dystrophy
What is x-linked recessive
500
Short stature, moderate to severe intellectual disability, distinctive facial features (BEAKED NOSE), and broad thumbs with radial angulation and first toes are great and broad.
What is Rubinstein Taybi Syndrome
500
When identified prenatally, does have an increase risk of abortion. Is it Trisomy 21, trisomy 18, trisomy 13, or all three (get it tri and three).
What is ALL
500
Which gycogen storage disease is it (Type 1: Von Gierke, type 2: Pompe, type 3 Cori, or type 5: McArdle) 5-month-old girl presented with shortness of breath and progressive muscle weakness 1 month before hospitalization. On physical examination, she was extremely floppy, had mild congestion of the pharyngeal wall, macroglossia, coarse breath sounds with rhonchi over both lung fields, regular heart beat with apical systolic murmur, hepatomegaly, and grade 4 muscle power of the extremities. The liver, heart, and muscle enzyme levels were elevated: SGOT, 288 U/L; SGPT, 194 U/L; creatine kinase (CK), 998 U/L (CK-MB, 72 U/L); and lactic dehydrogenase (LDH), 762 U/L (LDH1:LDH2, 1.65). The specific enzyme assay for acid maltase was not performed. Results of other laboratory studies were normal. The chest X-ray film showed cardiomegaly with infiltration of both upper lung fields. Electrocardiography showed a diffuse enlarged QRS complex, short PR interval, and left ventricular hypertrophy. Echocardiography displayed hypertrophy of the ventricular septum and walls, poor myocardial contractility, and mild mitral regurgitation
What is Pompe Disease
500
Which Lysosomal Storage Disease (Type 1: Gaucher, Niemann Pick Disease, Tay Sachs, Fabry Disease, or Metochromatic leukodystrophy) Patient presents with multiple medical records and shouting saying "no one can figure out what is wrong with my child" Patient now 3 years of age has difficulty with walking begining after the first year of life. Other symptoms include muscle wasting and weakness, muscle rigidity, developmental delays, progressive loss of vision leading to now blindness, Upon admission for failure to thrive patient has convulsions, impaired swallowing, paralysis, and dementia. Patient becomes comatose Patient eventually died before reaching age 5 years of age. The key diagnosis was decrease arylsulfatase A activity in urine and increase protein in CSF.
What is Metochromatic leukodystrophy